目的　探讨固醇-27羟化酶（CYP27A1）基因变异引起的脑黄腱瘤患儿的临床特点，肝脏病理改变及预后。方 法　回顾分析1例CYP27A1基因变异引起的脑黄腱瘤患儿的临床特点，并复习相关文献。结果　患儿，女， 1月龄，表现为 胆汁淤积、肝大、转氨酶升高，谷氨酸转移酶及总胆汁酸正常；病理检查提示肝内胆汁淤积、炎症细胞浸润，毛细胆管扩张 及增生；基因检测示CYP27A1基因剪接位点c.1263+1G>A / c.1477-3C>G复合杂合变异，其中c.1477-3C>G为一新颖变 异。结论　婴儿期出现胆汁淤积、转氨酶升高、肝肿大，而谷氨酸转移酶及总胆汁酸正常或减低，需警惕胆汁酸合成障碍， 应尽早完善基因检测，以早期诊断及治疗，改善预后。

　Objective　To discuss the clinical features，hepatic pathology，and prognosis of cerebrotendinous xanthomatosis in a child caused by CYP27A1 mutation. Methods　Clinical features of a child with cerebrotendinous xanthomatosis were retrospectively analyzed, and the related literatures viewed. Results　The child had different degrees of cholestasis, hepatomegaly, elevated transaminases, normal-glutamyl GGT(γ-GT) and normal total bile acid. The hepatic pathology showed intrahepatic cholestasis, inflammatory cell infiltration and expansion and hyperplasia of bile capillary. Gene testing found heterozygous mutations of CYP27A1 (c.1263+1G>A / c.1477-3C>G) in the child. The variant of c.1477-3C>G is a novel mutation. Conclusions　The possibility of bile acid synthesis disorder should be considered when infants have cholestasis, elevated transaminase, hepatomegaly, and normal or reduced γ-GT and total bile acid. Gene testing should be used for early diagnosis, treatment to improve prognosis.